|
OMIM |
Link |
Information gain |
01 |
|
DWS
|
[NCBI]
|
0.00218267
|
|
|
ventriculomegaly with defects of the radius and kidney
|
[NCBI]
|
0.00138332
|
|
|
heterotopia, periventricular, associated with chromosome 5p anomalies
|
[NCBI]
|
0.00138332
|
|
|
colloid cysts of third ventricle
|
[NCBI]
|
0.00110421
|
|
|
cerebrooculonasal syndrome
|
[NCBI]
|
0.00107278
|
|
|
PRS
|
[NCBI]
|
0.00107278
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.00107278
|
|
|
basilar impression, primary
|
[NCBI]
|
0.000955856
|
|
|
chudley-mccullough syndrome
|
[NCBI]
|
0.000955856
|
|
|
syringomyelia, isolated
|
[NCBI]
|
0.000880082
|
|
|
DA5
|
[NCBI]
|
0.000823853
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
0.000779137
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
0.000775738
|
|
|
CRH
|
[NCBI]
|
0.000598904
|
|
|
AVP
|
[NCBI]
|
0.000582197
|
|
|
NPY
|
[NCBI]
|
0.000482699
|
|
|
AIC
|
[NCBI]
|
0.000452349
|
|
|
heterotopia, periventricular, ehlers-danlos variant
|
[NCBI]
|
0.000274178
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
0.000244639
|
|
|
FLNA
|
[NCBI]
|
0.000220925
|
|
|
SLS
|
[NCBI]
|
0.000205481
|
|
|
mulibrey nanism
|
[NCBI]
|
0.000186463
|
|
|
enamel hypoplasia, cataracts, and aqueductal stenosis
|
[NCBI]
|
0.00017617
|
|
|
cystic kidney disease with ventriculomegaly
|
[NCBI]
|
0.00017617
|
|
|
cephalocele, atretic
|
[NCBI]
|
0.00017617
|
|
|
NGFB
|
[NCBI]
|
0.000162557
|
|
|
HSAS
|
[NCBI]
|
0.000149935
|
|
|
heterotopia, periventricular, autosomal recessive
|
[NCBI]
|
0.000136949
|
|
|
choroid plexus calcification and mental retardation
|
[NCBI]
|
0.000136949
|
|
|
teratoma, pineal
|
[NCBI]
|
0.000136949
|
|
|
stratton-parker syndrome
|
[NCBI]
|
0.000136949
|
|
|
encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia
|
[NCBI]
|
0.000136949
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.000135671
|
|
|
GFAP
|
[NCBI]
|
0.000124629
|
|
|
AD
|
[NCBI]
|
0.000123593
|
|
|
VEGF
|
[NCBI]
|
0.000114699
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
0.00011261
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
0.000105507
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
0.000105507
|
|
|
porencephaly, familial
|
[NCBI]
|
9.98584e-05
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
9.98584e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
9.98584e-05
|
|
|
CHAT
|
[NCBI]
|
9.68628e-05
|
|
|
TH
|
[NCBI]
|
9.57752e-05
|
|
|
FCDT
|
[NCBI]
|
9.51704e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
9.51704e-05
|
|
|
hydrocephalus
|
[NCBI]
|
9.51704e-05
|
|
|
TD2
|
[NCBI]
|
9.11653e-05
|
|
|
LISX1
|
[NCBI]
|
8.45724e-05
|
|
|
BPP
|
[NCBI]
|
8.45724e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
8.18908e-05
|
|
|
MDD
|
[NCBI]
|
8.03395e-05
|
|
|
TS
|
[NCBI]
|
7.48149e-05
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
7.28656e-05
|
|
|
IDH3G
|
[NCBI]
|
7.2819e-05
|
|
|
GNRH1
|
[NCBI]
|
7.24743e-05
|
|
|
MLC
|
[NCBI]
|
7.10317e-05
|
|
|
alexander disease
|
[NCBI]
|
7.10317e-05
|
|
|
PCD
|
[NCBI]
|
6.81558e-05
|
|
|
SMMCI
|
[NCBI]
|
6.61861e-05
|
|
|
masa syndrome
|
[NCBI]
|
6.47505e-05
|
|
|
CCK
|
[NCBI]
|
6.22462e-05
|
|
|
PBD
|
[NCBI]
|
5.85636e-05
|
|
|
RCDP1
|
[NCBI]
|
5.18365e-05
|
|
|
MEB
|
[NCBI]
|
5.18365e-05
|
|
|
OXT
|
[NCBI]
|
4.90104e-05
|
|
|
sotos syndrome
|
[NCBI]
|
4.86743e-05
|
|
|
ENPEP
|
[NCBI]
|
4.61631e-05
|
|
|
FTD
|
[NCBI]
|
4.61275e-05
|
|
|
PTH
|
[NCBI]
|
4.44851e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
4.33664e-05
|
|
|
FCMD
|
[NCBI]
|
4.33664e-05
|
|
|
NS1
|
[NCBI]
|
4.16457e-05
|
|
|
SCZD
|
[NCBI]
|
4.05652e-05
|
|
|
GRP
|
[NCBI]
|
3.94583e-05
|
|
|
TD1
|
[NCBI]
|
3.90336e-05
|
|
|
CHH
|
[NCBI]
|
3.90336e-05
|
|
|
BDNF
|
[NCBI]
|
3.83069e-05
|
|
|
TNF
|
[NCBI]
|
3.39642e-05
|
|
|
FFI
|
[NCBI]
|
3.26358e-05
|
|
|
ACH
|
[NCBI]
|
3.22693e-05
|
|
|
ARFGEF2
|
[NCBI]
|
2.95528e-05
|
|
|
SCN7A
|
[NCBI]
|
2.71234e-05
|
|
|
DNAH5
|
[NCBI]
|
2.71234e-05
|
|
|
GAL
|
[NCBI]
|
2.67957e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
2.63126e-05
|
|
|
GPR56
|
[NCBI]
|
2.53214e-05
|
|
|
TGFA
|
[NCBI]
|
2.53214e-05
|
|
|
PROK2
|
[NCBI]
|
2.3889e-05
|
|
|
MPO
|
[NCBI]
|
2.30563e-05
|
|
|
ZS
|
[NCBI]
|
2.28513e-05
|
|
|
HRK
|
[NCBI]
|
2.27008e-05
|
|
|
PYY
|
[NCBI]
|
2.25304e-05
|
|
|
MYT1
|
[NCBI]
|
2.16862e-05
|
|
|
PRL
|
[NCBI]
|
2.10243e-05
|
|
|
OPHN1
|
[NCBI]
|
2.08013e-05
|
|
|
SLOS
|
[NCBI]
|
1.95676e-05
|
|
|
CPT2
|
[NCBI]
|
1.93135e-05
|
|
|
OLIG2
|
[NCBI]
|
1.86756e-05
|
|
|
COL18A1
|
[NCBI]
|
1.80925e-05
|
|
|
GCG
|
[NCBI]
|
1.75557e-05
|
|
|
EGF
|
[NCBI]
|
1.71851e-05
|
|
|
GTS
|
[NCBI]
|
1.66671e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
1.66671e-05
|
|
|
SLE
|
[NCBI]
|
1.65339e-05
|
|
|
ADCYAP1
|
[NCBI]
|
1.54198e-05
|
|
|
UCN
|
[NCBI]
|
1.47817e-05
|
|
|
PMCH
|
[NCBI]
|
1.39931e-05
|
|
|
PD
|
[NCBI]
|
1.34877e-05
|
|
|
EPO
|
[NCBI]
|
1.15888e-05
|
|
|
LIFR
|
[NCBI]
|
1.13632e-05
|
|
|
LPL
|
[NCBI]
|
1.11017e-05
|
|
|
EGFR
|
[NCBI]
|
1.07696e-05
|
|
|
CFTR
|
[NCBI]
|
1.05593e-05
|
|
|
AFP
|
[NCBI]
|
8.2696e-06
|
|
|
PRLH
|
[NCBI]
|
8.11707e-06
|
|
|
VIP
|
[NCBI]
|
7.76823e-06
|
|
|
AQP4
|
[NCBI]
|
7.48405e-06
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
7.38561e-06
|
|
|
CJD
|
[NCBI]
|
7.23014e-06
|
|
|
ACHE
|
[NCBI]
|
7.00031e-06
|
|
|
CNTF
|
[NCBI]
|
6.99025e-06
|
|
|
amyloidosis vi
|
[NCBI]
|
6.93944e-06
|
|
|
ADM
|
[NCBI]
|
6.92973e-06
|
|
|
POMC
|
[NCBI]
|
6.59563e-06
|
|
|
AT
|
[NCBI]
|
6.53773e-06
|
|
|
CLU
|
[NCBI]
|
6.41292e-06
|
|
|
HDC
|
[NCBI]
|
5.67591e-06
|
|
|
PNMT
|
[NCBI]
|
5.4215e-06
|
|
|
DDC
|
[NCBI]
|
5.27796e-06
|
|
|
FGF1
|
[NCBI]
|
5.27796e-06
|
|
|
GUSB
|
[NCBI]
|
4.91696e-06
|
|
|
FGFR2
|
[NCBI]
|
4.69233e-06
|
|
|
UCP2
|
[NCBI]
|
4.58445e-06
|
|
|
RNASE2
|
[NCBI]
|
4.42783e-06
|
|
|
LEP
|
[NCBI]
|
4.22818e-06
|
|
|
PCNA
|
[NCBI]
|
3.98197e-06
|
|
|
NPPA
|
[NCBI]
|
3.3655e-06
|
|
|
GDNF
|
[NCBI]
|
3.30771e-06
|
|
|
ALD
|
[NCBI]
|
2.71815e-06
|
|
|
FAAH
|
[NCBI]
|
2.30287e-06
|
|
|
COMT
|
[NCBI]
|
2.29102e-06
|
|
|
FMR1
|
[NCBI]
|
2.27614e-06
|
|
|
RNASE3
|
[NCBI]
|
2.23338e-06
|
|
|
MUC1
|
[NCBI]
|
2.20043e-06
|
|
|
MBP
|
[NCBI]
|
1.97151e-06
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
1.73364e-06
|
|
|
BCHE
|
[NCBI]
|
1.64772e-06
|
|
|
APOE
|
[NCBI]
|
1.21284e-06
|
|
|
MAP2
|
[NCBI]
|
3.90719e-07
|
|
|
SLC6A4
|
[NCBI]
|
3.68904e-07
|
|
|
PWS
|
[NCBI]
|
3.32177e-07
|
|
|
CTGF
|
[NCBI]
|
2.23966e-07
|
|
|
GIP
|
[NCBI]
|
1.7679e-07
|
|
|
SLC6A3
|
[NCBI]
|
1.56605e-07
|
|
|
SHH
|
[NCBI]
|
8.34172e-08
|
|
|
PF4
|
[NCBI]
|
6.57244e-08
|
|
|
TTR
|
[NCBI]
|
2.42079e-08
|
|
|
HD
|
[NCBI]
|
9.3797e-09
|
|